Learn About Primary Ciliary Dyskinesia

Key Facts

• People with this condition have mutations in genes that control the structure and function of cilia, making them fail to clear inhaled particles and bacteria from the lung.
• When cilia do not work properly, the affected person is prone to infections in the ears, sinuses and the lungs.
• PCD is often under-recognized unless it is relatively severe. It may be first diagnosed as asthma, bronchitis or bronchiectasis of unknown cause.
• Infection and inflammation eventually lead to bronchiectasis in almost all adults with PCD.
• PCD is estimated to occur in approximately 1 of every 15,000 to 20,000 births worldwide.

How PCD Affects Your Body

Cilia are tiny hair-like structures on the surface of cells in many parts of the body, including the lungs. When they are functioning correctly, cilia beat together in a wave-like motion to move mucus, germs and other foreign particles up toward the mouth where they can be coughed or sneezed out. People with PCD are born with genetic mutations that cause defects in the cilia so that they are unable to beat properly. This is called dyskinesia. As a result, mucus builds up in the lungs, where it can cause infections such as bronchitis and pneumonia. Repeated infections can cause damage to the lungs and airways and lead to the development of bronchiectasis in almost all adults with PCD.

Cilia that do not work properly elsewhere in the body can cause chronic, recurring ear and sinus infections.

Some people who have PCD have a condition called situs inversus. This is a condition in which the position of internal organs in the body are reversed from normal. This condition is not harmful by itself but can be a clue in diagnosing PCD.

Who Is at Risk for PCD?

PCD is a recessive genetic disease, meaning that both parents have to contribute the same abnormal gene for someone to be born with PCD. More than 30 different genetic mutations that affect cilia development have been identified in people with PCD, and the pattern of inheritance is complex and not currently well understood.

Males and females are equally likely to be born with PCD. It affects people from all racial and ethnic groups.